Syndromes: Sanfilippo syndrome

A look at this progressive and rare congenital lysosomal disorder

A look at Sanfilippo syndrome, a progressive and rare congenital lysosomal disorder

Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, is a progressive and rare congenital lysosomal disorder caused by an enzyme deficiency in the degradation of heparan sulphate. One of seven MPS types with four subtypes: A, B, C and D (Whitley et al 2018), it affects one in 70,000 live births. Subtypes A and B are more common than C and D (Andrade et al 2015, Lavery et al 2017).


A high absorption level of mucopolysaccharides in the cells of the brain and central nervous system causes the characteristic neurological and developmental difficulties (Kartal 2016, National Organization for Rare Disorders 2017):

  • One to four years: deceleration in mental development.
  • Four to five years: challenging

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